Single cell RNA-sequencing of Bardet Biedl Syndrome iPSC-derived hypothalamic neurons

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and characterized by hyperphagic obesity. We developed a cellular model of BBS using induced pluripotent stem cell (iPSCs)-derived hypothalamic arcuate-like neurons. Single-cell RNA sequencing of iPSC-derived hypothalamic neurons from BBS1M390R and isogenic control identified affected cell subpopulations and several down-regulated pathways in BBS1 hypomorphic neurons, including axon guidance, insulin signaling and cAMP pathway. Day 32 iPSC-derived hypothalamic neurons from BBS1B (BBS1M390R) and its isogenic control line (c-BBS1B) were analyzed by scRNA-seq.